ClinVar Miner

Submissions for variant NM_005732.4(RAD50):c.428C>A (p.Ser143Tyr)

gnomAD frequency: 0.00001  dbSNP: rs754302772
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809116 SCV000949257 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-18 criteria provided, single submitter clinical testing Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt RAD50 protein function. ClinVar contains an entry for this variant (Variation ID: 653355). This variant has not been reported in the literature in individuals affected with RAD50-related conditions. This variant is present in population databases (rs754302772, gnomAD 0.006%). This sequence change replaces serine, which is neutral and polar, with tyrosine, which is neutral and polar, at codon 143 of the RAD50 protein (p.Ser143Tyr). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000809116 SCV001183929 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-12 criteria provided, single submitter clinical testing The p.S143Y variant (also known as c.428C>A), located in coding exon 4 of the RAD50 gene, results from a C to A substitution at nucleotide position 428. The serine at codon 143 is replaced by tyrosine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003461182 SCV004207395 uncertain significance Nijmegen breakage syndrome-like disorder 2023-06-02 criteria provided, single submitter clinical testing

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